A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533539



Internal ID309427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24132555..24136916hg38UCSC Ensembl
chr16:24143876..24148237hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384362
hg194362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706540
Samples
Known GenesPRKCB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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